ASXL Patient Registry
Designed and approved for patients and families (including angels)
with mutations in ASXL genes
How it works
Parents complete simple questionnaires online about their child’s medical history and may submit photographs as well as test results and notes from their physicians.
Please contact ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu with questions and to enroll in this study.
Participants will be updated about their data via a regular newsletter.
We have created short questionnaires that a busy family can answer in 15 minutes. Angels will only be surveyed once but we will continue to provide updates about the Registry. Our questionnaires are organized into categories and ask questions that are important to you and researchers.
The Registry Advisory Board is composed of family members, researchers, AЯRE and BOS foundation members, who help to ensure that the registry best suits the needs of the community.
With appropriate enrollment, we hope to have 3-4 questionnaires in year one.
Why it matters
Rare diseases are just that; rare! It is hard for physicians to know how to best take care of patients when little is known about the disease including treatment and expected clinical outcomes. But by joining together, families can share their experiences and knowledge by being involved in clinical registries. Your participation helps patients with ASXL mutations get better care by collecting important information that the medical community needs. A well run registry also helps produce scientific literature and leads to new research findings.
Learn more about some of the recent ASXL Registry updates from Dr. Russell’s presentation at the UCLA conference here.